Link to this page
Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/618862
http://purl.bioontology.org/ontology/OMIM/618862
|
|---|---|
| Preferred Name | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES |
| Synonyms |
NEDHYMS
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | NEDHYMS
|
|---|---|
| prefLabel | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES
|
| Gene Symbol |
RED1
ADARB1
NEDHYMS
|
| Scope Statement | Four unrelated patients have been reported (last curated April 2020) [MISCELLANEOUS]
Caused by mutation in the adenosine deaminase, RNA-specific, B1 gene (ADARB1, 601218.0001) [MOLECULAR BASIS]
Onset in infancy [MISCELLANEOUS]
Seizures are usually intractable [MISCELLANEOUS]
|
| type | |
| Has manifestation |
See more
See less
|
| tui | T047
|
| Gene Locus | 21q22.3
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 618862
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C5394312
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |